CTSB

cathepsin B

Summary

This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Both Cathepsin B and Cathepsin L are involved in the cleavage of the spike protein from the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) upon its entry to the human host cell. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Sep 2020]

Known Variants127 total

rsidPosition (GRCh37)AllelesClassClinVar
rs26454258:11,701,278G/Adownstream gene variant—
rs88988:11,702,542T/Cregulatory region variant—
rs7098218:11,702,594G/T——
rs7775281548:11,702,639T/C—uncertain significance
rs1176136668:11,702,653T/G—benign
rs7726411878:11,702,654G/C—uncertain significance
rs1497866648:11,702,657C/A—uncertain significance
rs7597774088:11,702,658G/A—likely benign
rs7528498748:11,702,660T/C—uncertain significance
rs5507595338:11,702,662C/G—uncertain significance
rs1485190318:11,702,663G/A—uncertain significance
rs18130332238:11,702,687A/C—uncertain significance
rs1427808698:11,702,691G/A—benign
rs2016500678:11,702,700G/C—uncertain significance
rs794873428:11,702,705C/T—benign
rs18130456978:11,702,740A/T—likely benign
rs17360818:11,702,840T/Gdownstream gene variant—
rs1998702928:11,703,154G/C—likely benign
rs1999116738:11,703,156G/C—benign
rs2017862598:11,703,157G/A—benign
rs7566111188:11,703,158G/A—likely benign
rs7470667538:11,703,187G/C—uncertain significance
rs12173723238:11,703,227T/G—uncertain significance
rs1469095578:11,703,243C/T—benign
rs1452521898:11,703,251G/A—uncertain significance
rs2013358398:11,703,272T/A—conflicting classifications of pathogenicity
rs7569297298:11,703,278C/T—uncertain significance
rs3750739688:11,703,280G/C—likely benign
rs7567998868:11,703,314C/T—likely benign
rs16928128:11,703,523T/Gregulatory region variant—
rs17360848:11,703,657C/Tdownstream gene variant—
rs17360858:11,703,659T/G——
rs3758851628:11,704,573G/A—uncertain significance
rs14136282248:11,704,577G/A—likely benign
rs1454609968:11,704,583C/T—likely benign
rs1476040398:11,704,584G/C—uncertain significance
rs1407785178:11,704,586A/G—likely benign
rs7460593718:11,704,587T/C—uncertain significance
rs2006645378:11,704,593G/T—uncertain significance
rs1384389158:11,704,609C/A—uncertain significance
rs7784866648:11,704,615C/T—uncertain significance
rs1143089078:11,704,617T/G—likely benign
rs5294272708:11,704,618T/G—uncertain significance
rs1452140178:11,704,619T/G—likely benign
rs7686910548:11,704,625G/C—uncertain significance
rs7728852868:11,704,631G/A—likely benign
rs3753821198:11,704,632G/A—uncertain significance
rs8914683878:11,704,634C/T—uncertain significance
rs1384892588:11,704,645T/C—benign
rs175738:11,704,650C/T—benign
rs13924052038:11,704,653T/G—uncertain significance
rs7719136438:11,704,654T/G—uncertain significance
rs1152075828:11,704,655G/A—benign
rs1176362568:11,704,660C/T—uncertain significance
rs22300718:11,704,667G/C—benign
rs7667524318:11,704,674T/C—likely benign
rs14373525098:11,705,198G/C—uncertain significance
rs7504894288:11,705,204T/A—uncertain significance
rs3712006578:11,705,206T/C—uncertain significance
rs1508606498:11,705,213C/A—likely benign
rs7796051798:11,705,227G/A—uncertain significance
rs7747653938:11,705,241C/T—uncertain significance
rs1397757218:11,705,255A/C—uncertain significance
rs11959970208:11,705,281G/A—uncertain significance
rs22300708:11,705,282G/A—benign
rs1462206228:11,705,288G/A—benign
rs9843971858:11,705,293C/T—uncertain significance
rs1511760818:11,705,321C/T—likely benign
rs7485904008:11,705,341C/T—likely benign
rs17360888:11,705,342C/G—benign
rs7801388588:11,705,560A/G—likely benign
rs24866559638:11,705,578A/G—uncertain significance
rs5438767558:11,705,588C/T—uncertain significance
rs7493924938:11,705,594G/A—uncertain significance
rs7693292888:11,705,634A/C—likely benign
rs3761374128:11,705,637T/C—likely benign
rs745313458:11,705,664G/A—likely benign
rs7790768868:11,705,675C/A—likely benign
rs22941408:11,705,677C/G—benign
rs5672573008:11,706,544G/C—likely benign
rs1995829278:11,706,546C/G—benign
rs1452565978:11,706,557G/A—likely benign
rs11370698:11,706,560C/T—benign
rs133328:11,706,581T/Gsynonymous variantbenign
rs2009260748:11,706,590G/A—likely benign
rs1389368638:11,706,596C/G—likely benign
rs5693077638:11,706,610C/T—uncertain significance
rs115485978:11,706,611G/A—likely benign
rs11622239658:11,706,635G/A—likely benign
rs7635227898:11,706,650G/C—uncertain significance
rs7644533388:11,706,664C/T—uncertain significance
rs797026198:11,706,683C/A—benign
rs5373173638:11,706,691A/G—benign
rs22727668:11,708,355G/A—benign
rs1167380698:11,708,365A/T—benign
rs3700213798:11,708,369C/T—uncertain significance
rs7474466608:11,708,371T/A—uncertain significance
rs1481177678:11,708,421G/A—likely benign
rs115485968:11,708,430G/A—benign
rs11856794368:11,708,442C/T—likely benign

Showing 100 of 127 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.